[Clinical characteristics and identification of a novel IL10RA variant in association with very early-onset inflammatory bowel disease].
作者信息
Dong Rui, Fu Xiaoli, Yang Haiying, Bai Yuexia, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu Yi
机构信息
Institute of Pediatric Research, Children's Hospital Affilated to Shandong University(Jinan Children's Hospital) Jinan, Shandong 250022, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Sep 10;39(9):992-995. doi: 10.3760/cma.j.cn511374-20210702-00564.
OBJECTIVE
To carry out clinical and genetic analysis for an infant manifesting perianal lesions, diarrhea and multiple intestinal perforations.
METHODS
Genomic DNA of the infant was extracted and subjected to targeted capture exome sequencing. Candidate variants were verified by Sanger sequencing of his family members.
RESULTS
The patient was found to harbor c.301C>T and c.188+1G>A compound heterozygous variants of the IL10RA gene, which has suggested the diagnosis of IL10RA-related very early-onset inflammatory bowel disease (VEOIBD).
CONCLUSION
The patient was diagnosed with IL10RA-related VEOIBD. The newly discovered c.188+1G>A variant has enriched the spectrum of IL10RA gene variations.
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